Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients

PLoS ONE

Volumn 5, Issue 4, 2010, Pages

  Jensen, Cathy J ^a,b   Stankovich, Jim ^c   Van der Walt, Anneke ^d,e,f   Bahlo, Melanie ^g   Taylor, Bruce V ^c   van der Mei, Ingrid A F ^c   Foote, Simon J ^c   Kilpatrick, Trevor J ^e   Johnson, Laura J ^a   Wilkins, Ella ^a   Field, Judith ^a   Danoy, Patrick ^e,h   Brown, Matthew A ^d,e,h,i   Rubio, Justin P ^a   Butzkueven, Helmut ^a,d,f   Booth, David R ^k   Broadley, Simon A ^k,l   Browning, Brian L ^m   Browning, Sharon R ^m   Carroll, William M ^n,o,p   Griffiths, Lyn R ^k   Heard, Robert N ^j   Kermode, Allan G ^n,o,p   Lechner Scott, Jeanette ^q,r   Moscato, Pablo ^r,s   Perreau, Victoria M ^e   Scott, Rodney J ^q,r,s   Slee, Mark ^t   Stewart, Graeme J ^j   Wiley, James ^u   more..

^a FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^b MONASH UNIVERSITY   (Australia)

^c UNIVERSITY OF TASMANIA   (Australia)

^d ROYAL MELBOURNE HOSPITAL   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f BOX HILL HOSPITAL   (Australia)

^g WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^h UNIVERSITY OF QUEENSLAND   (Australia)

ⁱ UNIVERSITY OF OXFORD   (United Kingdom)

^j WESTMEAD HOSPITAL   (Australia)

^k GRIFFITH UNIVERSITY   (Australia)

^l GOLD COAST UNIVERSITY HOSPITAL   (Australia)

^m UNIVERSITY OF AUCKLAND   (New Zealand)

ⁿ SIR CHARLES GAIRDNER HOSPITAL   (Australia)

^o Australian Neuromuscular Research Institute   (Australia)

^p UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^q JOHN HUNTER HOSPITAL   (Australia)

^r HUNTER MEDICAL RESEARCH INSTITUTE   (Australia)

^s UNIVERSITY OF NEWCASTLE   (Australia)

^t FLINDERS UNIVERSITY   (Australia)

^u NEPEAN HOSPITAL   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CD40 ANTIGEN; RIBOSOMAL PROTEIN L5; RIBOSOME PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUSTRALIA; BRAIN ATROPHY; CD40 GENE; CD58 GENE; CHROMOSOME 12Q; CLEC16A GENE; COGNITION; COHORT ANALYSIS; CONTROLLED STUDY; DEMYELINATION; DISABILITY; DISEASE SEVERITY; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; HUMAN; IL2RA GENE; IL7R GENE; MAJOR CLINICAL STUDY; MALE; MULTIPLE SCLEROSIS; ONSET AGE; RELAPSE; RPL5 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; ATROPHY; BRAIN; GENETIC PREDISPOSITION; GENETICS; HOSPITALIZATION; PATHOLOGY;

ADULT; AGE OF ONSET; ATROPHY; AUSTRALIA; BRAIN; COGNITION; COHORT STUDIES; DISABILITY EVALUATION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MULTIPLE SCLEROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEVERITY OF ILLNESS INDEX;

EID: 77956333737     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0010003     Document Type: Article

References (36)

1. The International Multiple Sclerosis Genetics Consortium (2007) Risk Alleles for Multiple Sclerosis Identified by a Genomewide Study. N Engl J Med 357: 851-862.
2. Masterman T, Ligers A, Olsson T, Andersson M, Olerup O, et al. (2000) HLADR15 is associated with lower age at onset in multiple sclerosis. Annals of Neurology 48: 211-219.
3. Zhang Z, Duvefelt K, Svensson F, Masterman T, Jonasdottir G, et al. (2005) Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis. Genes Immun 6: 145-152.
4. Rubio JP, Stankovich J, Field J, Tubridy N, Marriott M, et al. (2008) Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians. Genes Immun.
5. ANZgene Consortium (2009) Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. Nat Genet 41: 824-828.
6. Stankovich J, Butzkueven H, Marriott M, Chapman C, Tubridy N, et al. (2009) HLA-DRB1 associations with disease susceptibility and clinical course in Australians with multiple sclerosis. Tissue Antigens.
7. Smestad C, Brynedal B, Jonasdottir G, Lorentzen AR, Masterman T, et al. (2007) The impact of HLA-A and -DRB1 on age at onset, disease course and severity in Scandinavian multiple sclerosis patients. Eur J Neurol 14: 835-840.
8. Hensiek AE, Sawcer SJ, Feakes R, Deans J, Mander A, et al. (2002) HLA-DR 15 is associated with female sex and younger age at diagnosis in multiple sclerosis. J Neurol Neurosurg Psychiatry 72: 184-187.
9. Weatherby SJ, Thomson W, Pepper L, Donn R, Worthington J, et al. (2001) HLA-DRB1 and disease outcome in multiple sclerosis. J Neurol 248: 304-310.
10. Celius EG, Harbo HF, Egeland T, Vartdal F, Vandvik B, et al. (2000) Sex and age at diagnosis are correlated with the HLA-DR2, DQ6 haplotype in multiple sclerosis. J Neurol Sci 178: 132-135.
11. Barcellos LF, Sawcer S, Ramsay PP, Baranzini SE, Thomson G, et al. (2006) Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Hum Mol Genet 15: 2813-2824.
12. Barcellos LF, Oksenberg JR, Begovich AB, Martin ER, Schmidt S, et al. (2003) HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course. Am J Hum Genet 72: 710-716.
13. Hauser SL, Oksenberg JR, Lincoln R, Garovoy J, Beck RW, et al. (2000) Interaction between HLA-DR2 and abnormal brain MRI in optic neuritis and early MS. Neurology 54.
14. Thorpe JW, Mumford CJ, Compston DA, Kendall BE, MacManus DG, et al. (1994) British Isles survey of multiple sclerosis in twins: MRI. J Neurol Neurosurg Psychiatry 57: 491-496.
15. Perera D, Stankovich J,Butzkueven H, Taylor BV, Foote SJ, et al. (2009) Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus. J Neuroimmunol.
16. van der Walt A, Stankovich J, Bahlo M, Taylor BV, van der Mei IA, et al. (2009) Apolipoprotein genotype does not influence MS severity, cognition, or brain atrophy. Neurology 73: 1018-1025.
17. Kurtzke J (1983) Rating neurologic impairment in multiple sclerosis: an expanded disability status scale (EDSS). Neurology 33: 1444-1452.
18. Roxburgh RHSR, Seaman SR, Masterman T, Hensiek AE, Sawcer SJ, et al. (2005) Multiple Sclerosis Severity Score: using disability and disease duration to rate disease severity. Neurology 64: 1144-1151.
19. Wechsler D (1981) Manual for the Wechsler Adult Intelligence Scale-Revised. New York: The Psychological Corporation.
20. Butzkueven H, Kolbe SC, Jolley DJ, Brown JY, Cook MJ, et al. (2008) Validation of linear cerebral atrophy markers in multiple sclerosis. Journal of Clinical Neuroscience 15: 130-137.
21. Van der Walt A, Stankovich J, Bahlo M, Taylor B, Van der Mei I, et al. (2009) Posters II: MS Variants - 2 P614. Multiple Sclerosis 15: S151-269.
22. Baranzini SE, Wang J, Gibson RA, Galwey N, Naegelin Y, et al. (2009) Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. Hum Mol Genet 18: 767-778.
23. Ramagopalan S, DeLuca G, Morrison K, Herrera B, Dyment D, et al. (2008) Analysis of 45 candidate genes for disease modifying activity in multiple sclerosis. Journal of Neurology 255: 1215-1219.
24. Zivadinov R, Uxa L, Zacchi T, Nasuelli D, Ukmar M, et al. (2003) HLA genotypes and disease severity assessed by magnetic resonance imaging findings in patients with multiple sclerosis. J Neurol 250: 1099-1106.
25. Runmarker B, Martinsson T, Wahlstrom J, Andersen O (1994) HLA and prognosis in multiple sclerosis. J Neurol 241: 385-390.
26. Okuda DT, Srinivasan R, Oksenberg JR, Goodin DS, Baranzini SE, et al. (2009) Genotype-Phenotype correlations in multiple sclerosis: HLA genes influence disease severity inferred by 1HMR spectroscopy and MRI measures. Brain 132: 250-259.
27. The Multiple Sclerosis Genetics Group, Barcellos LF, Oksenberg JR, Green AJ, Bucher P, et al. (2002) Genetic basis for clinical expression in multiple sclerosis. Brain 125: 150-158.
28. Burwick RM, Ramsay PP, Haines JL, Hauser SL, Oksenberg JR, et al. (2006) APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers. Neurology 66: 1373-1383.
29. Kantarci OH, Atkinson EJ, Hebrink DD, McMurray CT, Weinshenker BG (2000) Association of two variants in IL-1[beta] and IL-1 receptor antagonist genes with multiple sclerosis. Journal of Neuroimmunology 106: 220-227.
30. Fiotti N, Zivadinov R, Altamura N, Nasuelli D, Bratina A, et al. (2004) MMP-9 microsatellite polymorphism and multiple sclerosis. Journal of Neuroimmunology 152: 147-153.
31. Association of MMP1, MMP3, MMP9, and MMP12 polymorphisms with risk and clinical course of multiple sclerosis in a Polish population. Journal of Neuroimmunology, In Press, Corrected Proof.
32. Nelissen I, Vandenbroeck K, Fiten P, Hillert J, Olsson T, et al. (2000) Polymorphism analysis suggests that the gelatinase B gene is not a susceptibility factor for multiple sclerosis. Journal of Neuroimmunology 105: 58-63.
33. Kantarci OH, Schaefer-Klein JL, Hebrink DD, Achenbach SJ, Atkinson EJ, et al. (2003) A population-based study of IL4 polymorphisms in multiple sclerosis. Journal of Neuroimmunology 137: 134-139.
34. Mirel DB, Barcellos LF, Wang J, Hauser SL, Oksenberg JR, et al. (2004) Analysis of IL4R haplotypes in predisposition to multiple sclerosis. Genes Immun 5: 138-141.
35. Suppiah V, Goris A, Alloza I, Heggarty S, Dubois B, et al. (2005) Polymorphisms in the interleukin-4 and IL-4 receptor genes and multiple sclerosis: a study in Spanish-Basque, Northern Irish and Belgian populations. International Journal of Immunogenetics 32: 383-388.
36. Hackstein H, Bitsch A, Bohnert A, Hofmann H, Weber F, et al. (2001) Analysis of interleukin-4 receptor [alpha] chain variants in multiple sclerosis. Journal of Neuroimmunology 113: 240-248.